A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1079132



Internal ID15585632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:10239859..11757275hg38UCSC Ensembl
Innerchr7:10279486..11796901hg19UCSC Ensembl
Innerchr7:10246011..11763426hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg381517417
hg191517416
hg181517416
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv606187
Supporting Variants
Samples
Known GenesNDUFA4, PHF14, THSD7A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1079132
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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